Question

Anna is a 29-year-old G2P1 who has just had a 20-week routine anatomy ultrasound. The physician informed her that there were some “soft markers” for Down syndrome and that genetic amniocentesis is available if she wants to have it. Please answer all questions Anna asks if the ultrasound shows that the fetus has Down syndrome. How can the nurse explain the “soft markers” for Down syndrome? What counseling should Anna receive about amniocentesis? Anna decided to go home and discuss the findings with her family. She ultimately decided to have genetic amniocentesis and is back today for that appointment. What are the nursing implications of genetic amniocentesis? The results of the amniocentesis show trisomy 21. After genetic counseling, Anna chooses to continue the pregnancy. How can the nurse help Anna at this time in her pregnancy?

Answer 1

1. Common soft markers for Down syndrome in the second trimester Ultrasound includes the following:

Echogenic Intraventricular Focus (EIF)- a small bright spot on the baby's heart that should come from the calcium deposits

Echogenic bowel- the bowel area appears brighter than normal

Choroid plexus cyst- a fluid filled space in the brain which appears as a cyst and is not considered a brain abnormality, which is more commonly associated with trisomy 18

Renal pyelectasis- the main area of the kidney is enlarged

Short femur/humerus- the length of the thigh or arm bones are smaller than the normal

Mild cerebral ventriculomegaly- cerebrospinal fluid is trapped in the ventricles, causing them to dilate and grow abnormally large

Absent or shortened nasal bone- this marker has a stronger link with Down's syndrome than most others

2.Although a variety of screening and diagnostic tests are available to detect a fetus with Down's syndrome. It is essential that before implementing , the patient and thier significant others are provide with appropriate information concerning them. This information is valuable in helping them to understand the reliability of the screening of the diagnostic test and the implication of the results

The early diagnosis of an affected pregnancy gives the patient and her family the opportunity to determine whether termination of pregnancy is an option for her. Alternatively, an early discovery of a fetal problem provides time for the patients to be informed and make preparations for rearing a child with Down syndrome

Throughout the screening and the diagnosis process, the patient deserves an unbiased counsellor who can provide continuity of care and up-to-date accurate and indepth information

3. Amniocentesis is an invasive procedure that involves removal of amniotic fluid. Under ultrasonographic guidance, a needle is inserted through the maternal abdomen and into the amniotic sac. Components of amniotic fluid, including fetal cells may be analyzed for chromosomal abnormalities, fetal lung maturity, infection and presence of  bilirubin in Rh-sensitized pregnancy

Complications associated with amncentesis include the following:

• Rupture of the membranes
• Pre-term labor
• Infection
• Fetal injury
• Fetal death

Educate her regarding the out come of this pre-naatal screening. After the infant's birth, diseases that may increase the risk for infection, cause liver damge, mental retardation and death can often identiied through this aminocentesis

4.The counsellor needs to be able to failitate open discussion whereby the patient can voice concerns related to issues such as

• Spiritual beliefs
• Financial constraints
• Family dynamics
• Emotional feelings
• Cultural
• Philosophical and ethical values

Whatever decision the patient makes regarding pregnancy, she needs a sound support system that will help her and her family deal with the issues that arise during pregnancy and provide the appropriate after care